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Article

The ABCA1 Q597R mutant undergoes trafficking from the ER upon ER stress.

Biochemical and biophysical research communications - 16 May 2008

Tanaka Arowu R, Kano Fumi, Ueda Kazumitsu, Murata Masayuki

Abstract excerpt

Mutations in ATP binding cassette transporter 1 (ABCA1), a membrane protein associated with cellular cholesterol efflux, cause Tangier disease (TD). Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum. Here, we report that QR trafficking to the plasma membrane was rapidly induced by thapsigargin or DTT, indicating that ER stress-induced QR trafficking....

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Source

Identifiers

PMID: 18343215
DOI: 10.1016/j.bbrc.2008.03.018

Genes

ABCA1
ATF6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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